%0 Journal Article
%T A new heterozygous compound mutation in the CTSA gene in galactosialidosis
%J -
%D 2019
%R https://doi.org/10.1038/s41439-019-0054-x
%X Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal ¦Â-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Patients present with various clinical manifestations and are classified into three types according to the age of onset: the early infantile type, the late infantile type, and the juvenile/adult type. We report a Japanese female case of juvenile/adult type galactosialidosis. Clinically, she presented with short stature, coarse facies, angiokeratoma, remarkable action myoclonus, and cerebellar ataxia. The patient was diagnosed with galactosialidosis with confirmation of impaired ¦Â-galactosidase and neuraminidase function in cultured skin fibroblasts. Sanger sequencing for CTSA identified a compound heterozygous mutation consisting of NM_00308.3(CTSA):c.746£¿+£¿3A>G and c.655-1G>A. Additional analysis of her mother¡¯s DNA sequence indicated that the former mutation originated from her mother, and therefore the latter was estimated to be from the father or was a de novo mutation. Both mutations are considered pathogenic owing to possible splicing abnormalities. One of them (c.655-1G>A) is novel because it has never been reported previously
%U https://www.nature.com/articles/s41439-019-0054-x